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Russell-Silver and other little known diseases

I talked to my brother today. I'd heard from my sister that my niece is going to be having surgery soon and I asked him about that. She's going to have it Wednesday to correct a problem with her legs. One of them is slightly longer than the other. The difference is slight enough for me not to have noticed it, but apparently it is going to cause problems with her spine if it is not fixed.

The problem with her legs is caused by a growth disorder she has called Russell-Silver syndrome. We learned about it when she was a very small child. Asymmetry is one of the problems it produces, along with retarded growth. I actually didn't notice this for a while...when she was two and three years old she was supposed to be small! I got a better appreciation when she was four and saw her next to a two-year-old who was the same size.

If my niece didn't suffer from RSS, I'm pretty sure I would never have heard of it. My brother told me has spoken with several doctors who have never heard of it. The obscurity of this disorder is the reason I'm making this particular blog post. Folks need to know about it. For those who want to learn more, The Magic Foundation, an organization that deals with growth disorders, has a web page about it.

Another disorder that doesn't get enough attention is Fragile X. It is the second (after Down's Syndrome) leading cause of congenital mental retardation, but hardly anyone has heard of it. I learned of it when Katie Clapp*, an old graduate school classmate had a child with Fragile X. I'm not sure I would have ever heard of Fragile X if I didn't know Katie.

Katie dealt with the difficult of a special needs child well, going beyond what even a good parent would do. She didn't just take care of her child, she helped found FRAXA, an organization devoted to Fragile X research. The research it's funded has been very fruitful and led to some helpful treatments for the disorder.

Both The Magic Foundation and Fraxa do a lot of good work. Since this good work is done in areas many people have never heard of, they don't get the voluminous contributions some other better-known organizations do. Anyone looking for a medical charity to give money to should consider these organizations.

*That's her real name. My usual practice of using fake names for my friends would be kind of pointless since her name is on the web site